Incidental Mutation 'IGL02441:Prrt3'
ID 293976
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prrt3
Ensembl Gene ENSMUSG00000045009
Gene Name proline-rich transmembrane protein 3
Synonyms B230206N24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # IGL02441
Quality Score
Status
Chromosome 6
Chromosomal Location 113470600-113478892 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113473977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 354 (T354A)
Ref Sequence ENSEMBL: ENSMUSP00000145443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032422] [ENSMUST00000101059] [ENSMUST00000204134] [ENSMUST00000204268] [ENSMUST00000205075] [ENSMUST00000205170]
AlphaFold Q6PE13
Predicted Effect probably benign
Transcript: ENSMUST00000032422
SMART Domains Protein: ENSMUSP00000032422
Gene: ENSMUSG00000030284

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:DUF3456 45 103 1.7e-9 PFAM
EGF 154 193 2.11e1 SMART
FU 208 255 1.66e-1 SMART
EGF 213 244 2.2e1 SMART
EGF_like 245 290 4.26e-3 SMART
FU 268 315 4.46e-2 SMART
EGF_CA 305 344 1.1e-7 SMART
transmembrane domain 363 382 N/A INTRINSIC
transmembrane domain 387 406 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000101059
AA Change: T353A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098620
Gene: ENSMUSG00000045009
AA Change: T353A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 99 111 N/A INTRINSIC
low complexity region 125 136 N/A INTRINSIC
low complexity region 142 162 N/A INTRINSIC
low complexity region 239 252 N/A INTRINSIC
low complexity region 270 281 N/A INTRINSIC
low complexity region 307 321 N/A INTRINSIC
low complexity region 423 447 N/A INTRINSIC
transmembrane domain 463 485 N/A INTRINSIC
transmembrane domain 492 511 N/A INTRINSIC
transmembrane domain 526 548 N/A INTRINSIC
transmembrane domain 561 583 N/A INTRINSIC
transmembrane domain 588 610 N/A INTRINSIC
transmembrane domain 630 652 N/A INTRINSIC
transmembrane domain 667 689 N/A INTRINSIC
low complexity region 885 905 N/A INTRINSIC
low complexity region 927 943 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129125
Predicted Effect probably damaging
Transcript: ENSMUST00000204134
AA Change: T354A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145031
Gene: ENSMUSG00000045009
AA Change: T354A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 99 111 N/A INTRINSIC
low complexity region 125 136 N/A INTRINSIC
low complexity region 142 162 N/A INTRINSIC
low complexity region 239 252 N/A INTRINSIC
low complexity region 270 281 N/A INTRINSIC
low complexity region 307 321 N/A INTRINSIC
low complexity region 424 448 N/A INTRINSIC
transmembrane domain 464 486 N/A INTRINSIC
transmembrane domain 493 512 N/A INTRINSIC
transmembrane domain 527 549 N/A INTRINSIC
transmembrane domain 562 584 N/A INTRINSIC
transmembrane domain 589 611 N/A INTRINSIC
transmembrane domain 631 653 N/A INTRINSIC
transmembrane domain 668 690 N/A INTRINSIC
low complexity region 886 906 N/A INTRINSIC
low complexity region 928 944 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000204268
AA Change: T354A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145443
Gene: ENSMUSG00000045009
AA Change: T354A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 99 111 N/A INTRINSIC
low complexity region 125 136 N/A INTRINSIC
low complexity region 142 162 N/A INTRINSIC
low complexity region 239 252 N/A INTRINSIC
low complexity region 270 281 N/A INTRINSIC
low complexity region 307 321 N/A INTRINSIC
low complexity region 424 448 N/A INTRINSIC
transmembrane domain 464 486 N/A INTRINSIC
transmembrane domain 493 512 N/A INTRINSIC
transmembrane domain 527 549 N/A INTRINSIC
transmembrane domain 562 584 N/A INTRINSIC
transmembrane domain 589 611 N/A INTRINSIC
transmembrane domain 631 653 N/A INTRINSIC
transmembrane domain 668 690 N/A INTRINSIC
low complexity region 886 906 N/A INTRINSIC
low complexity region 928 944 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204920
Predicted Effect possibly damaging
Transcript: ENSMUST00000205075
AA Change: T354A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000145089
Gene: ENSMUSG00000045009
AA Change: T354A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 99 111 N/A INTRINSIC
low complexity region 125 136 N/A INTRINSIC
low complexity region 142 162 N/A INTRINSIC
low complexity region 239 252 N/A INTRINSIC
low complexity region 270 281 N/A INTRINSIC
low complexity region 307 321 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000205170
AA Change: T354A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000145183
Gene: ENSMUSG00000045009
AA Change: T354A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 99 111 N/A INTRINSIC
low complexity region 125 136 N/A INTRINSIC
low complexity region 142 162 N/A INTRINSIC
low complexity region 239 252 N/A INTRINSIC
low complexity region 270 281 N/A INTRINSIC
low complexity region 307 321 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg8 C T 7: 97,029,504 (GRCm39) R179C probably benign Het
Als2 A G 1: 59,254,631 (GRCm39) M242T probably damaging Het
Atad1 C T 19: 32,684,348 (GRCm39) V17I probably benign Het
Bag4 A G 8: 26,258,136 (GRCm39) V397A probably damaging Het
Brd7 A G 8: 89,070,218 (GRCm39) V396A probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdhr4 T A 9: 107,870,466 (GRCm39) I123N possibly damaging Het
Cep68 A G 11: 20,189,186 (GRCm39) F609L probably benign Het
Clec3b C A 9: 122,980,178 (GRCm39) P24T possibly damaging Het
Ctsg T A 14: 56,339,869 (GRCm39) T9S probably benign Het
Dalrd3 A T 9: 108,448,725 (GRCm39) probably benign Het
Dock6 A T 9: 21,753,222 (GRCm39) V286E possibly damaging Het
Dpep2 G A 8: 106,711,723 (GRCm39) A568V probably benign Het
Dph5 A C 3: 115,720,390 (GRCm39) Q192P possibly damaging Het
Eppin T A 2: 164,433,698 (GRCm39) R37* probably null Het
Esyt1 A G 10: 128,348,293 (GRCm39) L865P possibly damaging Het
Exoc6b A G 6: 84,981,990 (GRCm39) L102P probably damaging Het
Foxo6 A G 4: 120,125,232 (GRCm39) I521T possibly damaging Het
Guca1a A T 17: 47,705,578 (GRCm39) probably benign Het
Hpx A G 7: 105,241,430 (GRCm39) F327S probably damaging Het
Hspa12b A G 2: 130,980,515 (GRCm39) M145V probably null Het
Hspa4 A T 11: 53,161,809 (GRCm39) S448T probably benign Het
Kbtbd6 T C 14: 79,690,759 (GRCm39) Y422H probably benign Het
Lama4 A T 10: 38,937,441 (GRCm39) D677V probably benign Het
Ldb1 C T 19: 46,024,195 (GRCm39) E111K probably damaging Het
Macf1 A G 4: 123,281,029 (GRCm39) S3823P probably damaging Het
Man1a2 G A 3: 100,499,189 (GRCm39) T415I probably benign Het
Map3k2 T C 18: 32,333,099 (GRCm39) probably benign Het
Morn5 T A 2: 35,945,038 (GRCm39) Y87* probably null Het
Mpp3 T C 11: 101,900,501 (GRCm39) D326G probably benign Het
Mrgprx1 T C 7: 47,671,336 (GRCm39) H137R probably benign Het
Nav2 C A 7: 49,102,260 (GRCm39) P292T probably damaging Het
Nlrp2 C A 7: 5,338,566 (GRCm39) probably null Het
Noxo1 G A 17: 24,918,030 (GRCm39) S112N probably damaging Het
Nudt9 G T 5: 104,212,885 (GRCm39) K319N probably benign Het
Or8b38 A T 9: 37,973,233 (GRCm39) I206L probably benign Het
Osbpl7 C A 11: 96,958,528 (GRCm39) Q728K probably damaging Het
Pcsk1 A T 13: 75,280,282 (GRCm39) E702D probably benign Het
Piezo2 T C 18: 63,205,933 (GRCm39) D1492G probably damaging Het
Plekhg1 A G 10: 3,908,103 (GRCm39) K1007E possibly damaging Het
Ppp6r3 G A 19: 3,514,693 (GRCm39) P141S probably benign Het
Ptk2 C A 15: 73,192,675 (GRCm39) W181L probably benign Het
Rif1 T A 2: 51,995,527 (GRCm39) H915Q probably benign Het
Selenbp2 G T 3: 94,611,371 (GRCm39) V361L probably benign Het
Slamf7 A G 1: 171,468,625 (GRCm39) L89P probably damaging Het
Slc6a21 G A 7: 44,937,505 (GRCm39) V599M probably damaging Het
Sltm G T 9: 70,494,467 (GRCm39) S921I probably damaging Het
Smc4 C A 3: 68,913,544 (GRCm39) A44E probably damaging Het
Tdrd5 A T 1: 156,087,513 (GRCm39) probably benign Het
Tead2 T A 7: 44,866,845 (GRCm39) I68N probably damaging Het
Tnks1bp1 T A 2: 84,902,143 (GRCm39) S1680T probably damaging Het
Topbp1 T C 9: 103,197,438 (GRCm39) V386A possibly damaging Het
Tpx2 C A 2: 152,724,207 (GRCm39) P328T possibly damaging Het
Ttn T A 2: 76,576,332 (GRCm39) I24854F probably damaging Het
Zbtb11 G A 16: 55,794,552 (GRCm39) R43H possibly damaging Het
Zfp609 A G 9: 65,610,611 (GRCm39) L784S possibly damaging Het
Zfp703 T C 8: 27,470,036 (GRCm39) S567P probably damaging Het
Zfp750 A G 11: 121,404,455 (GRCm39) I140T probably benign Het
Other mutations in Prrt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01061:Prrt3 APN 6 113,474,731 (GRCm39) missense possibly damaging 0.66
IGL02199:Prrt3 APN 6 113,471,770 (GRCm39) missense probably damaging 1.00
IGL02498:Prrt3 APN 6 113,474,788 (GRCm39) missense possibly damaging 0.62
IGL02508:Prrt3 APN 6 113,471,268 (GRCm39) missense probably damaging 1.00
IGL03231:Prrt3 APN 6 113,474,485 (GRCm39) missense possibly damaging 0.83
R0102:Prrt3 UTSW 6 113,474,790 (GRCm39) missense probably damaging 0.97
R0102:Prrt3 UTSW 6 113,474,790 (GRCm39) missense probably damaging 0.97
R0207:Prrt3 UTSW 6 113,472,801 (GRCm39) missense probably damaging 1.00
R1005:Prrt3 UTSW 6 113,471,739 (GRCm39) missense probably damaging 1.00
R1550:Prrt3 UTSW 6 113,472,468 (GRCm39) missense probably damaging 0.97
R4036:Prrt3 UTSW 6 113,474,641 (GRCm39) frame shift probably null
R4393:Prrt3 UTSW 6 113,471,907 (GRCm39) missense probably benign
R4604:Prrt3 UTSW 6 113,475,198 (GRCm39) missense possibly damaging 0.83
R4825:Prrt3 UTSW 6 113,475,099 (GRCm39) missense probably benign 0.01
R5155:Prrt3 UTSW 6 113,474,520 (GRCm39) splice site probably null
R6154:Prrt3 UTSW 6 113,471,989 (GRCm39) missense probably damaging 1.00
R7570:Prrt3 UTSW 6 113,471,449 (GRCm39) missense probably damaging 0.98
R8903:Prrt3 UTSW 6 113,472,796 (GRCm39) missense probably damaging 0.98
R9335:Prrt3 UTSW 6 113,475,058 (GRCm39) missense probably benign 0.12
R9574:Prrt3 UTSW 6 113,474,587 (GRCm39) missense probably benign 0.12
R9768:Prrt3 UTSW 6 113,474,032 (GRCm39) missense probably damaging 1.00
Z1177:Prrt3 UTSW 6 113,474,263 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16